GEPH_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: GPHN , GPH, KIAA1385
Protein names and data: GEPH_HUMAN , Gephyrin; Molybdopterin adenylyltransferase; MPT adenylyltransferase; 2.7.7.75 , Domain G; Molybdopterin molybdenumtransferase; MPT Mo-transferase; 2.10.1.1; Domain E Lenght: 736 a.a.
Mass: 79748 Da
fasta formatted sequence
Function: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.
Catalytic activity: ATP + molybdopterin = diphosphate + adenylyl- molybdopterin. Adenylyl-molybdopterin + molybdate = molybdenum cofactor + AMP.
Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.
Disease:
Cellular location: Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Cytoplasmic face of glycinergic postsynaptic membranes (By similarity).

Genetic variants

Database cross-references

UniProt: Q9NQX3
Ensembl: ENST00000315266
Ensembl: ENST00000478722
MIM: 252150
MIM: 603930
neXtProt: NX_Q9NQX3
Antibodypedia: Q9NQX3 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.